L35P (p.Leu35Pro) variant of WAS (P42768)
L35P (p.Leu35Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiskott-Aldrich syndrome. The record also includes published literature and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- rs2519277671
- ClinGen CA412865777
- ClinVar RCV003219202
- Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)